Klinefelter Syndrome and Fertility - Current practice in a tertiary Children’s Hospital

Vasiliki Alexopoulou; Katerina Bambang; Senthil Senniappan

Background: Klinefelter Syndrome (KS) is the most common chromosomal anomaly in males associated with infertility. Advances in assisted reproductive medicine have made conception possible for some men with KS, with increasing scientific interest gathered around semen cryopreservation and testicular biopsy for sperm extraction (TESE).

Objectives: This project aims to examine the current practice in a paediatric tertiary hospital around fertility of children and young people with KS, against the recommendations of European Academy of Andrology for KS. We also examined the hormonal profile of adolescents who had semen analysis.

Methods: All the patients with KS under the care of the Andrology team were identified and their hospital electronic records were used to extract data retrospectively.

Results: We identified 32 patients with KS. The mean age for referral to Andrology services was 13.6 years. Testosterone was offered to 15/32 (47%) patients and the most common indication was induction of puberty. The mean age for starting testosterone was 14.85 years. Discussion about fertility was undertaken in 26/32 (76.5%) cases. Semen analysis was offered in 9 patients who were progressing with puberty spontaneously and were not on testosterone therapy (28%) but only 7 accepted the procedure. Only 1/7 (14.3%) patient had viable sperm which was cryopreserved. His hormonal profile showed normal AMH, Inhibin B and LH, while FSH and testosterone levels were low. Azoospermia was present in 6/7 (85.7%) cases, out of which 2 (33.3%) patients accepted microTESE (mTESE), 2 (33.3%) are considering mTESE and 2 declined mTESE (33.3%). Their hormonal profiles were variable (Table 1).

Table 1: Hormonal profile of patients with azoospermia on semen analysis
	AMH	Inhibin B	FSH	LH	Testosterone
Low	33.3%	50%	33.3%	0%	16.6%
Normal	33.3%	16.6%	33.3%	50%	83.3%
High	33.3%	16.6%	33.3%	50%	0%
Not done	-	16.6%	-	-	-

Conclusions: KS management varies significantly. The yield from semen analysis is low and further interventions including mTESE could be offered. However, fertility discussions could be quite sensitive, and patients and families may not be ready for fertility discussions and interventions. Hence, support from MDT including endocrinologist, fertility specialist and psychologist is essential. Hormonal profile has the potential to support the fertility discussions in KS.

ESPE Abstracts

P1-578